LEOPARD syndrome: clinical dilemmas in differential diagnosis of RASopathies

Diagnosis of Noonan syndrome and related disorders using target next generation sequencing

(2014) Francesca Romana Lepri et al.   BMC Medical Genetics

Gain-of-Function Mutations in RIT1 Cause Noonan Syndrome, a RAS/MAPK Pathway Syndrome

(2013) Yoko Aoki et al.   AMERICAN JOURNAL OF HUMAN GENETICS

A cost savings approach toSPRED1mutational analysis in individuals at risk for neurofibromatosis type 1

(2013) Talia M. Muram et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Noonan syndrome

(2013) Amy E Roberts et al.   LANCET

LEOPARD syndrome (PTPN11, T468M) in three boys fulfilling neurofibromatosis type 1 clinical criteria

(2011) Atilano Carcavilla et al.   EUROPEAN JOURNAL OF PEDIATRICS

Orthopaedic Conditions in Ras/MAPK Related Disorders

(2011) Kent A. Reinker et al.   JOURNAL OF PEDIATRIC ORTHOPAEDICS

The RASopathies: developmental syndromes of Ras/MAPK pathway dysregulation

(2009) William E Tidyman et al.   CURRENT OPINION IN GENETICS & DEVELOPMENT

LEOPARD Syndrome and Chiari Type I Malformation

(2009) Alexandra D. Beier et al.   NEUROLOGIST